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研究兴趣

论文共 27 篇作者统计合作学者相似作者

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Long-read Genome and RNA Sequencing Resolve a Pathogenic Intronic Germline LINE-1 Insertion in APC
Alexandra A Baumann, Lisanne I Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J Widmann, Marcus Franke,Karl Hackmann, Sylke Winkler,Daniela Richter,Isabel Spier,Stefan Aretz,Daniela Aust,Joseph Porrmann,Doreen William,Evelin Schröck,Hanno Glimm,Arne Jahn
NPJ genomic medicineno. 1 (2025): 30-30
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Corrigendum to “variable Expressivity of KMT2B Variants at Codon 2565 in Patients with Dystonia and Developmental Disorders” [parkinson. Relat. Disord. (2025) 133 107319]
Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, Katerina Bernardi,Joseph Porrmann, Philip Harrer, Frank Kaiser,Rami Abou Jamra,Juliane Winkelmann,Robert Jech,Anne Koy,Konrad Oexle,Michael Zech
Parkinsonism & related disorders (2025): 107795-107795
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An inherited PUF60 variant expands the genetic and phenotypic spectrum of the Verheij syndrome
Maria Constanza Roa Bravo, Andrea Kuebler,Karl Hackmann,Evelin Schroeck,Jens Schallner,Joseph Porrmann,Arne Jahn
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 542-542
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Single Center Experience with Diagnostic Whole Genome Sequencing in 70 Patients with Rare Diseases
Doreen William, Zarah Kowalzyk,Karl Hackmann, Marion Bermudez, Oliver Kutz, Samira Zarvandi,Jan Fischer,Arne Jahn, Marcus Franke, Maria Constanza Roa Bravo, Lydia Rossow, Ann-Selin Onuk, Sylvia Huetter,Joseph Porrmann,Jens Schallner,Tanita Kretschmer,Catharina Schuetz,Min Ae Lee-Kirsch,Reinhard Berner,Evelin Schroeck,Nataliya Di Donato
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 292-292
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作者统计

#Papers: 27

#Citation: 190

H-Index: 8

G-Index: 12

Sociability: 5

Diversity: 2

Activity: 4

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